Clinical features and molecular analysis of Hb H disease in Taiwan.

ABSTRACT: Thalassemia is highly prevalent in Taiwan, but limited data are available about the association between genotypes and clinical manifestations in Taiwanese patients with Hb H disease. Here, we studied α-globin gene abnormalities and clinical features in Taiwanese patients with Hb H disease. Of the 90 patients, sixty-four (71.1%) were deletional and twenty-six (28.9%) were nondeletional Hb H disease. The (- -(SEA)) type of α(0)-thalassemia mutation was detected in the majority of patients (>95%). The most common genotype was (- -(SEA)/-α(3.7)), followed by (- -(SEA)/α(cs)α). After further investigation of the genotype-phenotype correlation in 68 patients, we found that patients with nondeletional Hb H disease had more severe clinical features than those with deletional Hb H disease, includin

SUBMITTER: Chao YH 

PROVIDER: S-EPMC4163353 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature